Bilateral Petrous Apex Cephalocele Associated with a Wide Sella.

ABSTRACT: Petrous apex cephalocele (PAC) is a rare type of cephalocele. It is usually asymptomatic. It can be unilateral or bilateral. Bilateral cases are less common. They are etiologically and clinically different entities from unilateral ones. A 56-year-old female patient presented to the hospital with the complaint of a severe nonspecific headache. She has been examined in ear nose throat, ophthalmology, and finally neurology clinics. Bilateral PAC was incidentally found in magnetic resonance imaging (MRi) examination. Headache was associated with PAC because no additional pathology could explain the clinical symptomatology. There is a proven relationship between empty sella and PAC. Regarding PAC less than 50 cases are known. Our paper aims to contribute to the literature by exhibiting etiologic and clinic differences between unilateral and bilateral PAC. It highlights the relationship between PAC and broad sella that is a different entity from empty sella and shows this remarkable radiological appearance. The authors presented our case accompanied by clinical and MRi findings.

Bone Regeneration of a 3D-Printed Alloplastic and Particulate Xenogenic Graft with rhBMP-2.

This study aimed to evaluate the bone regeneration capacity of a customized alloplastic material and xenograft with recombinant human bone morphogenetic protein-2 (rhBMP-2). We prepared hydroxyapatite (HA)/tricalcium phosphate (TCP) pure ceramic bone blocks made using a 3D printing system and added rhBMP-2 to both materials. In eight beagle dogs, a total of 32 defects were created on the lower jaws. The defective sites of the negative control group were left untreated (N group; 8 defects), and those in the positive control group were filled with particle-type Bio-Oss (P group; 12 defects). The defect sites in the experimental group were filled with 3D-printed synthetic bone blocks (3D group; 12 defects). Radiographic and histological evaluations were performed after healing periods of 6 and 12 weeks and showed no significant difference in new bone formation and total bone between the P and 3D groups. The 3D-printed custom HA/TCP graft with rhBMP-2 showed bone regeneration effects similar to that of particulate Bio-Oss with rhBMP-2. Through further study and development, the application of 3D-printed customized alloplastic grafts will be extended to various fields of bone regeneration.

CHARGE syndrome without colobomas: Ophthalmic findings.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.

Marcus Gunn Jaw-Winking Syndrome: a Case Report.

INTRODUCTION: Marcus Gunn syndrome is a rare phenomenon with very less number of cases reported in literature. It may be congenital or acquired. AIM: The aim of this case report was to report the clinical characteristics of Marcus Gunn patient from our Clinic. CASE REPORT: A comprehensive opthalmologic examination, CDVA (corrected distance visual acuity), fundus examination and photography, was conducted in Marcus Gunn patient. Clinical findings of patient presented as - chin positioned slightly upwards, extraocular motility normal on both eyes, cover test with normal findings, pupillary examination normal on both eyes. Left upper eyelid was in a lower position than the right one. On right eye, rima interpalpebrarum was 9 mm with upgaze of 13mm. On the left eye, rima interpalpebrarum was 5 mm with upgaze of 6 mm, and with open mouth, left rima interpalpebrarum was 10 mm. Visual acuity on both eyes was 1.0. Cycloplegic refraction on both eyes was +0,75 diopters (D), and Lang test was normal. In the differential diagnosis of patients with ptosis, Marcus Gunn jaw winking syndrome should be considered especially if it improves during feeding, sucking, chewing, smiling or any kind of mouth movement. In case of ptosis always do the jaw test. Have the infant bottle-feed. An older child can chew gum. Have the patient open the mouth, move the jaw from side to side, or protrude the jaw forward. CONCLUSION: Address first to treatment of any amblyopia if present - eyeglasses, patching etc., or strabismus. Think twice before deciding to operate.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, brachydactyly, dental anomalies and mild osteoporosis. To date, only one large French Canadian family and a Finnish woman have been reported with the condition. In both, intragenic duplication encompassing exons 3-5 of the RUNX2 gene was identified. We describe a new, three-generation family with clinical features of MDMHB and an intragenic tandem duplication of RUNX2 exons 3-6. Dental problems were the primary presenting feature in all four affected individuals. We compare the features in our family to those previously reported in MDMHB, review the natural history of this condition and highlight the importance of considering an underlying skeletal dysplasia in patients presenting with significant dental problems and other suggestive features, including disproportionate short stature and/or digital anomalies.

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects. The findings from this study are useful for better understanding the morphological consequences of disorders of EIF4A3, and having a better picture of the anatomic characteristics of the syndrome for a better therapeutic planning. Twenty-four angular and linear variables were measured to assess anteroposterior and vertical (superior-inferior) position of the cranial base, maxilla, mandible, and facial profile. The cephalometric radiographic analysis was performed on 9 individuals with RCPS, obtained at a mean age of 10.3 years, and compared with randomly selected age-matched 9 controls, without clefts and with well-balanced faces, with mean age of 10.6 years (both groups range 8.1 to 13.7 years). t test was used for analysis of means and Levene test for equality of variances. The syndrome group presented severe mandibular hypoplasia and retrognathism (P = 0.009, P = 0.001), greater facial convexity (N'PnPog and N'SnPog, P < 0.05) in syndrome group compared with the control group (P = 0.003, P = 0.004). In conclusion, in the RCPS group, most craniofacial defects affect the lower facial third, considering the severely affected mandible.

A Novel Method to Calculate the Volume of Alveolar Cleft Defect Before Surgery.

BACKGROUND: This study aimed to evaluate a novel subtractive method for the precise calculation of alveolar cleft defect volume before surgery using the three-dimensional imaging software Mimics. METHODS: Ten patients (3 female, 7 male, age range 8-12 years) with unilateral alveolar cleft were enrolled in the study. Preoperative helical computed tomography scans were performed for all patients. A new subtractive method was introduced to precisely calculate the alveolar cleft defect volume before surgery with the aid of Mimics. The DICOM data of every patient were processed using the subtractive method. Statistical analyses were performed using Pearson's correlation test and t test. RESULTS: The mean volume of the alveolar cleft defect was 1811.97 ±â€Š817.90 mm. The mean time spent to calculate an alveolar cleft defect volume was 60.60 ±â€Š11.67 minutes. The Pearson correlation test (r = 0.38, P = 0.279) indicated a poor correlation between alveolar cleft defect volume and calculation time. CONCLUSIONS: Preoperative knowledge of defect volume is crucial in alveolar cleft repair. Accurate estimation of graft volume in alveolar cleft patients can be performed using this new subtractive method. Compared with previous methods, this new subtractive method is time-saving and suitable for both unilateral and bilateral clefts. Surgeons can use this method to design a surgical plan for each patient before surgery within a short time, and with less cost.

Cyclopia: isolated and with agnathia-otocephaly complex.

Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malformation of the first branchial arch characterised by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). These two reported cases had in common a single eye and alobar HPE. The first case was live born and the second stillborn. Both mothers did not have antenatal care.

Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia.

Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. In this study, we analyzed craniofacial morphology in a mouse model of achondroplasia, in which fibroblast growth factor receptor 3 (FGFR3) is specifically activated in cartilage ( Fgfr3ach mice), and investigated the mechanisms of jaw deformities caused by this mutation. Furthermore, we analyzed the effect of CNP on the maxillofacial area in these animals. Fgfr3ach mice exhibited midfacial hypoplasia, especially in the sagittal direction, caused by impaired endochondral ossification in craniofacial cartilage and by premature closure of the spheno-occipital synchondrosis, an important growth center in craniomaxillofacial skeletogenesis. We crossed Fgfr3ach mice with transgenic mice in which CNP is expressed in the liver under the control of the human serum amyloid-P component promoter, resulting in elevated levels of circulatory CNP ( Fgfr3ach/SAP-Nppc-Tg mice). In the progeny, midfacial hypoplasia in the sagittal direction observed in Fgfr3ach mice was improved significantly by restoring the thickness of synchondrosis and promoting proliferation of chondrocytes in the craniofacial cartilage. In addition, the foramen magnum stenosis observed in Fgfr3ach mice was significantly ameliorated in Fgfr3ach/SAP-Nppc-Tg mice due to enhanced endochondral bone growth of the anterior intraoccipital synchondrosis. These results clearly demonstrate the therapeutic potential of CNP for treatment of midfacial hypoplasia and foramen magnum stenosis in achondroplasia.

A Rare Case of Hanhart Syndrome with Mild Developmental Delay.

Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.

Keratocystic Odontogenic Tumour Mimicking Lateral Periodontal Cyst: A Diagnostic Dilemma.

The Keratocystic Odontogenic Tumor is a developmental cyst derived from the enamel organ or from the dental lamina. It is a benign, multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and has a potential for aggressive, infiltrative behavior and recurrence. Keratocystic Odontogenic Tumors have a predilection for males and occurs mainly in the second and third decade of life, most commonly in the mandible, mostly in the posterior body, the angle and the ascending ramus. It extends in the intramedullary space making it difficult to diagnose at an early stage. It is regarded as a distinctive entity because of its characteristic histology, proliferation kinetics and behavior. Main in 1970 described, collateral variant of Keratocystic Odontogenic Tumor, which presents adjacent to the roots of the teeth usually in the mandibular premolar region and radiologically is indistinguishable from the lateral periodontal cyst and gingival cyst.

Phenotypic classification of variability of non-syndromic congenital cleft lip and jaw in Vorderwald × Montbéliarde cattle.

BACKGROUND: Non-syndromic congenital cleft lip and jaw (CLJ) is a condition reported in several cattle breeds, but a detailed classification system does not exist for cattle. The objective of the present study was to describe the phenotypic variability of this orofacial malformation in Vorderwald × Montbéliarde cattle. For this purpose, a classification system of CLJ was developed on examination of five orofacial structures: (1) lips, (2) the processus (proc.) nasalis of the os incisivum, (3) the dental plate with adjacent segments of the hard palate, (4) the facial bones (os incisivum, os maxillare, os nasale and os palatinum) and (5) the mandibles. Each structure was given a score reflecting the degree of the lesion from absent (score 0) to severe. RESULTS: Nine cases were included in the study and they shared absence of the abaxial rostral part of the processus (proc.) nasalis of the os incisivum, partial loss of the rugae palatinae and the dental plate. A sigmoid curvature of the rostral lower jaw as well as a lateral deviation of the face and rostral lower jaw was highly variable in their expression. These deformations were present in eight of nine cases. In addition to the complete CLJ, three animals had an incomplete CLJ on the contralateral site with variable defects of the rostral part of the proc. nasalis of the os incisivum. CONCLUSIONS: A complete CLJ is obviously accompanied by a loss of parts of the proc. nasalis of the os incisivum. Extent and localization of the missing parts of the proc. nasalis were similar in all cases. A precise classification of the various CLJ forms is necessary.

DLX4 is associated with orofacial clefting and abnormal jaw development.

Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son­c.546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger sequencing. In mammals, there are three Dlx homeobox clusters with closely located gene pairs (Dlx1/Dlx2, Dlx3/Dlx4, Dlx5/Dlx6). In situ hybridization showed that Dlx4 was expressed in the mesenchyme of the murine palatal shelves at E12.5, prior to palate closure. Wild-type human DLX4, but not mutant DLX4_c.546delG, could activate two murine Dlx conserved regulatory elements, implying that the mutation caused haploinsufficiency. We showed that reduced DLX4 expression after short interfering RNA treatment in a human cell line resulted in significant up-regulation of DLX3, DLX5 and DLX6, with reduced expression of DLX2 and significant up-regulation of BMP4, although the increased BMP4 expression was demonstrated only in HeLa cells. We used antisense morpholino oligonucleotides to target the orthologous Danio rerio gene, dlx4b, and found reduced cranial size and abnormal cartilaginous elements. We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants. From the published literature, Dlx1/Dlx2 double homozygous null mice and Dlx5 homozygous null mice both have clefts of the secondary palate. This first finding of a DLX4 mutation in a family with CL/P establishes DLX4 as a potential cause of human clefts.

Congenital intra-oral adhesions: a surgical approach to cleft palate lateral synechia syndrome.

An array of genetic syndromes has been associated with intra-oral adhesions in neonates. The primary medical issues arise from airway obstruction, feeding difficulties and poor oral development, specifically with cleft palate lateral synechia syndrome (CPLSS). Despite this, a paucity of data exists for the clinical management of intra-oral adhesions in this population. We report the cases of a father and daughter diagnosed with CPLSS who presented with respiratory and feeding difficulties at birth undergoing surgical correction. Early surgical ligation of intra-oral bands allows for a stabilization of the airway, improved feeding and oral development with a good long-term outcome.

Morphologic relationship between the cranial base and the mandible in patients with facial asymmetry and mandibular prognathism.

INTRODUCTION: This study was conducted to measure the dimensional changes in the cranial base and the mandible in patients with facial asymmetry and mandibular prognathism, and to examine the morphologic relationship between asymmetries of the cranial base and the mandible. METHODS: The patients were 60 adults with mandibular prognathism, divided into a symmetry group (menton deviation, <2 mm; n = 30) and an asymmetry group (menton deviation, >4 mm; n = 30) according to the degree of menton deviation. Three-dimensional computed tomography scans were obtained with a spiral scanner. Landmarks were designated on the reconstructed 3-dimensional surface models. Linear, angular, and volumetric measurements of the cranial base and mandibular variables were made. RESULTS: In the asymmetry group, the hemi-base, anterior cranial base, and middle cranial base volumes were significantly larger (P <0.01), and crista galli to sphenoid, sphenoid to petrous ridge, anterior clinoid process to petrous ridge, and vomer to petrous ridge lengths were significantly longer (P <0.05) on the nondeviated side than on the deviated side. Menton deviation was significantly correlated with the difference in hemi-base volume, and ramal volume was significantly correlated with the difference in hemi-base and middle cranial base volumes between the nondeviated and deviated sides (P <0.05). CONCLUSIONS: In patients with facial asymmetry and mandibular prognathism, cranial base volume increased on the nondeviated side and was also correlated with mandibular asymmetry.

Mandibular abnormalities in a patient with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the presence of cutaneous neurofibromas, multiple cafd-au-lait spots and pigmented nodules of the iris known as Lisch nodules. In some cases, the diagnosis can be made at birth while in others the diagnosis is made later in life based on the appearance of additional criteria. We describe radiographic abnormalities of the mandible in a young adult male with NF1.

Magnetic resonance imaging findings of true bifid mandibular condyle with duplicated mandibular fossa.

Bifid mandibular condyle (BMC) is a rare asymptomatic morphological alteration with no predilection for age group or gender. Its morphology varies from a shallow groove to two condylar heads with separate necks, oriented mediolaterally or anteroposteriorly. This report describes an unusual case of anteroposterior bifid condyle in a 39-year-old female patient with the main complaint of mouth-opening limitation and a deviation of the mandible to the left side. Magnetic resonance imaging (MRI) findings revealed a bifid condyle on the left side and duplicated mandibular fossa, with the articular disc over the anterior head. The MRI images in the open-mouth position revealed minimal movement of the condyle. Despite the increased number of mediolateral bifid mandibular condyle cases described in the literature, none of previously reported cases of BMC included an anteroposterior bifid condyle case with two distinct mandibular fossa.